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Optimizing Diagnostic Tools & Outcomes Evaluation for t (9;22)-Positive Leukemias in Pediatric Low Middle-Income Country (LMIC) Patients.
Cancer Invest
January 2025
Department of Pathology & Laboratory Medicine, Aga Khan University, Karachi, Pakistan.
Accurate and timely diagnosis of t(9;22)-positive leukemias is vital to improving survival in pediatric patients. In low-resource settings, where healthcare disparities are exacerbated by limited resources, cost-effective and efficient diagnostic methods are essential for bridging these gaps and ensuring better outcomes. Among the diagnostic tools evaluated among 23 patients sample, RT-PCR demonstrated superior sensitivity (100%) and the shortest turnaround time (7 days), significantly outperforming FISH and karyotyping in both accuracy and timeliness.
View Article and Find Full Text PDFPGT-A: what's it for, what's wrong?
J Assist Reprod Genet
January 2025
Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.
PGT-A, what's it for? Considering the increase in fetal aneuploidies with a woman's age and the high number of miscarriages associated with fetal karyotype anomalies, the concept of selecting IVF embryos based on their karyotype in order to transfer only euploid embryos and eliminate aneuploid ones was proposed. Preimplantation genetic testing for aneuploidy (PGT-A) was then established, nearly 30 years ago, with the expectation that the transfer of euploid embryos would lead to a significant improvement in medically assisted reproduction (MAR) outcomes. PGT-A, what's wrong? Despite the practice and widespread use, PGT-A has not consistently proven its effectiveness.
View Article and Find Full Text PDFHow to combine multiple tools for the genetic diagnosis work-up of pediatric B-cell acute lymphoblastic leukemia.
Ann Hematol
January 2025
Hematology Service, Experimental Hematology, Vall d'Hebron Hospital Universitari, Vall d'Hebron Institute of Oncology (VHIO), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.
This study investigated the importance of comprehensive genetic diagnosis in pediatric B-cell acute lymphoblastic leukemia (B-ALL). We analyzed 175 B-ALL employing karyotyping, FISH, MLPA, targeted next-generation sequencing (t-NGS), and Optical Genome Mapping (OGM). This approach achieved an 83% classification rate, identifying 17 distinct genetic subtypes.
View Article and Find Full Text PDFThe value of increasing sequencing depth for noninvasive prenatal screening for whole chromosomal aneuploidy.
Sci Rep
January 2025
Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, 511442, Guangdong, China.
To evaluate the value of increasing sequencing depths of non-invasive prenatal testing (NIPT) for fetal chromosomal aneuploidies based on the semiconductor sequencing platform. This study recruited a cohort of 59,800 singleton pregnancies from Guangdong Women and Children Hospital between January 2015 and December 2020, including 48,018 cases of NIPT and 11,782 cases of expanded NIPT. Cell-free DNA from plasma samples was sequenced at a sequencing depth of 0.
View Article and Find Full Text PDFNew insights into interspecies relationships, chromosomal evolution, and hybrid identification in the Lycoris Herb.
BMC Plant Biol
January 2025
Jiangxi Provincial Key Laboratory of Subtropical Forest Resources Cultivation, 2011 Collaboration Innovation Center of Jiangxi Typical Trees Cultivation and Utilization, Jiangxi Agricultural University, Nanchang, Jiangxi, 330045, China.
Background: Frequent interspecific hybridization, unclear genetic backgrounds, and ambiguous evolutionary relationships within the genus Lycoris pose significant challenges to the identification and classification of hybrids, thereby impacting the application and development of Lycoris. This study utilizes karyotype structure, genome size, and fluorescent in situ hybridization (FISH) technology to explore the chromosomal evolution and hybrid identification of Lycoris employing three approaches at the cytogenetic level.
Results: The findings indicate that species with a smaller basic chromosome number exhibit less asymmetry than those with a larger basic chromosome number, suggesting that species with different basic chromosome numbers may have followed different evolutionary pathways.
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